Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis
Open Access
- 20 January 2014
- journal article
- research article
- Published by Wiley in American Journal of Hematology
- Vol. 89 (5), 493-498
- https://doi.org/10.1002/ajh.23672
Abstract
The recent progress in sensitive KIT D816V mutation analysis suggests that mutation analysis of peripheral blood (PB) represents a promising diagnostic test in mastocytosis. However, there is a need for systematic assessment of the analytical sensitivity and specificity of the approach in order to establish its value in clinical use. We therefore evaluated sensitive KIT D816V mutation analysis of PB as a diagnostic test in an entire case‐series of adults with mastocytosis. We demonstrate for the first time that by using a sufficiently sensitive KIT D816V mutation analysis, it is possible to detect the mutation in PB in nearly all adult mastocytosis patients. The mutation was detected in PB in 78 of 83 systemic mastocytosis (94%) and 3 of 4 cutaneous mastocytosis patients (75%). The test was 100% specific as determined by analysis of clinically relevant control patients who all tested negative. Mutation analysis of PB was significantly more sensitive than serum tryptase >20 ng/mL. Of 27 patients with low tryptase, 26 tested mutation positive (96%). The test is furthermore readily available and we consider the results to serve as a foundation of experimental evidence to support the inclusion of the test in diagnostic algorithms and clinical practice in mastocytosis. Am. J. Hematol. 89:493–498, 2014.Keywords
This publication has 24 references indexed in Scilit:
- Gastrointestinal manifestations in mastocytosis: A study of 83 patientsJournal of Allergy and Clinical Immunology, 2013
- KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosisJournal of Allergy and Clinical Immunology, 2013
- Systemic mastocytosis in adults: 2013 update on diagnosis, risk stratification, and managementAmerican Journal of Hematology, 2013
- Evaluation of the WHO criteria for the classification of patients with mastocytosisLaboratory Investigation, 2011
- Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factorsBlood, 2009
- Mast cells and mastocytosisBlood, 2008
- Standards and standardization in mastocytosis: Consensus Statements on Diagnostics, Treatment Recommendations and Response CriteriaEuropean Journal of Clinical Investigation, 2007
- KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patientsBlood, 2006
- The biology of Kit in disease and the application of pharmacogeneticsJournal of Allergy and Clinical Immunology, 2004
- Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder.Proceedings of the National Academy of Sciences, 1995